Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Journal of Medical Genetics
Tingxia LvJian Huang

Abstract

Hereditary haemochromatosis (HH) caused by a homozygous p.C282Y mutation in haemochromatosis (HFE) gene has been well documented. However, less is known about the causative non-HFE mutation. We aimed to assess mutation patterns of haemochromatosis-related genes in Chinese patients with primary iron overload. Patients were preanalysed for mutations in the classic HH-related genes: HFE, HJV, HAMP, TFR2 and SLC40A1. Whole exome sequencing was conducted for cases with variants in HJV signal peptide region. Representative variants were analysed for biological function. None of the cases analysed harboured the HFE p.C282Y; however, 21 of 22 primary iron-overload cases harboured at least one non-synonymous variant in the non-HFE genes. Specifically, p.E3D or p.Q6H variants in the HJV signal peptide region were identified in nine cases (40.9%). In two of three probands with the HJV p.E3D, exome sequencing identified accompanying variants in BMP/SMAD pathway genes, including TMPRSS6 p.T331M and BMP4 p.R269Q, and interestingly, SUGP2 p.R639Q was identified in all the three cases. Pedigree analysis showed a similar pattern of combination of heterozygous mutations in cases with HJV p.E3D or p.Q6H, with SUGP2 p.R639Q or HJV p.C321X being co...Continue Reading

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Citations

Dec 1, 2018·Liver International : Official Journal of the International Association for the Study of the Liver·Wei ZhangUNKNOWN China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group
Mar 11, 2020·Frontiers in Genetics·Wei ZhangJidong Jia
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Aug 21, 2021·The Application of Clinical Genetics·Devan S Kowdley, Kris V Kowdley
Sep 30, 2021·Orphanet Journal of Rare Diseases·Liyan WuJidong Jia

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